Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease

Danon disease, an X-linked dominant disorder, results from mutations in the lysosome-associated membrane protein-2 (LAMP2) gene and presents with hypertrophic cardiomyopathy, skeletal myopathy, and mental retardation. To investigate the effects of LAMP2 gene mutations on protein expression in differ...

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Autors principals: Fanin, Marina, Nascimbeni, Anna C., Fulizio, Luigi, Spinazzi, Marco, Melacini, Paola, Angelini, Corrado
Format: Artigo
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2006
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Original Research Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1606547/
https://ncbi.nlm.nih.gov/pubmed/16565504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2006.050646
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